Ophthalmological involvement in wild-type transthyretin amyloidosis: A multimodal imaging study

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY
Luisa Frizziero, Alessandro Salvalaggio, Eleonora Cosmo, Alberto Cipriani, Edoardo Midena, Chiara Briani
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Abstract

Background and Aims

Ophthalmological abnormalities have been reported in hereditary transthyretin-related amyloidosis (ATTRv, v for variant) but not in wild-type transthyretin-related amyloidosis (ATTRwt).

Methods

Patients with ATTRwt, ATTRv, and light chain amyloidosis (AL) and healthy subjects (controls) underwent complete eye examination, including optical coherence tomography (OCT), OCT angiography (OCTA), and in vivo corneal confocal microscopy (CCM).

Results

Seventeen ATTRwt, nine ATTRv, two ATTRv carriers, and seven AL patients were enrolled. Compared with other groups, ATTRwt patients had 10 letters lower visual acuity and a higher prevalence of glaucoma, cataract, and retinal pigment epithelium alterations. In the whole group of patients, especially in ATTRwt, we observed (1) a reduced corneal nerve fiber length and more tortuous stromal nerves at CCM, (2) a reduced macular volume and peripapillary nerve fiber layer thickness at OCT, and (3) impairment of peripapillary and macular vascularization at OCTA.

Interpretation

Ophthalmological abnormalities are common in ATTRwt, significantly impairing visual acuity. Noninvasive imaging modalities allow for the identification of small nerve fibers and small vessel damage, which may represent further warning signs for early diagnosis of ATTRwt.

Abstract Image

野生型转甲状腺素淀粉样变性的眼科受累:多模态成像研究
背景和目的 据报道,遗传性转甲状腺素相关淀粉样变性病(ATTRv,v表示变异型)会出现眼部异常,而野生型转甲状腺素相关淀粉样变性病(ATTRwt)不会出现眼部异常。 方法 对 ATTRwt、ATTRv 和轻链淀粉样变性(AL)患者以及健康受试者(对照组)进行全面的眼部检查,包括光学相干断层扫描(OCT)、OCT 血管造影术(OCTA)和活体角膜共聚焦显微镜(CCM)。 结果 共纳入 17 名 ATTRwt 患者、9 名 ATTRv 患者、2 名 ATTRv 携带者和 7 名 AL 患者。与其他组别相比,ATTRwt 患者的视力要低 10 个字母,青光眼、白内障和视网膜色素上皮改变的发病率较高。在整组患者中,尤其是在 ATTRwt 患者中,我们观察到:(1)CCM 观察到角膜神经纤维长度减少,基质神经更加迂曲;(2)OCT 观察到黄斑体积和毛细血管周围神经纤维层厚度减少;(3)OCTA 观察到毛细血管周围和黄斑血管受损。 解释 ATTRwt 常见眼科异常,严重影响视力。无创成像模式可识别小神经纤维和小血管损伤,这可能是早期诊断 ATTRwt 的进一步预警信号。
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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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